Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002909368 | SCV003256792 | uncertain significance | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q | 2021-12-19 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.2448_2449insCAACAAAGCACAAAG, results in the insertion of 5 amino acid(s) of the ERCC4 protein (p.Leu816_Lys817insGlnGlnSerThrLys), but otherwise preserves the integrity of the reading frame. |